About Fanconi anemia
Fanconi anemia is a rare inherited blood disorder that leads to bone marrow failure. It prevents bone marrow from making enough new blood cells for the body to work properly. Fanconi anemia can also cause bone marrow to make faulty blood cells. This can lead to serious health problems such as leukemia, a type of blood cancer. Although Fanconi anemia is a blood disorder, it can also affect many of the body’s other organs, tissues and systems.
Symptoms and diagnosis
Recognizing Fanconi anemia
Fanconi anemia usually appears before age 12.
Early signs and symptoms may include:
Shortness of breath
Many children with Fanconi anemia are born with at least one of the following:
Smaller-than average body size
Small head size
Extra or missing thumbs or fingers
Hips, legs, hands and toes not formed fully
Ear and eye defects
Your child’s doctor will ask questions about their medical history and do a physical examination. The following tests will also be completed:
Chromosome breakage test: This treats white blood cells or sometimes skin cells with certain chemicals to see how the chromosomes in these cells react.
Mutation screening: Mutation screening looks for abnormalities in specific genes that are responsible for Fanconi anemia
Advanced treatment options for your child’s needs
Treating Fanconi anemia can include both short-term and long-term treatment. Short-term will monitor the disease and control the symptoms.
These treatment options include:
Regular blood-count checks
Yearly bone marrow test
Screenings for tumors and cancer
Antibiotic treatment as needed for infections
Long-term treatment includes:
Growth factors to help the body make more red and white blood cells.
Androgen therapy to help the body make more red blood cells and platelets.
Fighting pediatric cancer and blood disorders
The UW Health Kids Cancer Care specialists offer the most advanced treatment options. Our pediatric cancer and blood disorder experts are national research leaders. We test new therapies and continue to work on therapies for pediatric cancer and blood disorders. For many children with rare or hard-to-treat conditions, clinical trials provide new options.
Care for your child
Receiving care from the UW Health Kids hematology, oncology and bone marrow transplant program at American Family Children’s Hospital means you have access to the knowledge and skills of many medical and support specialists for your child’s complex health diagnosis like cancer.
Meet our team
Expert care for your child
Your child’s care is our top priority and we understand the unique needs they have.
Your child’s team will include:
Oncologists (cancer doctors)
Hematologists (blood disease doctors)
Child Life specialists
Pain management specialists
Physical, occupational and speech therapists
Radiologists and radiation technologists
Patient and support services
You’re never alone
There are services available at both American Family Children’s Hospital and in the community to help patients and their families through every step of their journey.
Child life specialists help your child and family cope with any fears and anxieties, and the American Family Children's Hospital patient and family visitor guide features information about:
Positive Image Center
Spiritual care services
Tyler's Place (sibling child care)
Pediatric cancer services
With our expertise comes compassion. Our team considers you and your child part of our family. We will be by your side every step of the way. From diagnosis through treatment and into adulthood, we will care for your child as if they are our own.Learn more